Imperforate Anus Research Articles

Insights into Atresia Ani Type IV in Felis catus: Preliminary Epidemiolocal Findings Associated with Surgery.

Atresia Ani (AA) is a rare congenital anomaly in companion animals affecting rectal and anal development. Its incidence in cats remains unreported. This retrospective study aimed to characterize age, body condition, fistula size, and perioperative outcomes in Type IV Atresia Ani (with recto-vaginal fistula) in female cats. Surgical intervention is the primary treatment. Conducted over 2 years, the study included nine female cats diagnosed with Type IV Atresia Ani and recto-vaginal fistula undergoing surgery. Statistical analysis used the R program (version 4.2.1) with Rstudio®® extension. Significant results were observed at a 95% confidence interval and p < 0.05. The condition had an incidence of 4.7% among the 192 cats evaluated over a 2-year period. The findings suggest that a body condition score of 3, an age of 3 to 4 weeks, and a fistula length of 1 to 2 mm correlated with better surgical outcomes, reducing the likelihood of fecal incontinence and anal stenosis development, and enhancing defecation awareness during the perioperative period. This study is the first to report the disease incidence in cats undergoing surgery, according to the authors' knowledge.

Analysis of Risk Factors for Continence Post Posterior Sagittal Anorectoplasty (PSARP) in Anorectal Malformation Patients: A Single Center Observational Study at Dr. Mohammad Hoesin General Hospital, Palembang, Indonesia

Analysis of Risk Factors for Continence Post Posterior Sagittal Anorectoplasty (PSARP) in Anorectal Malformation Patients: A Single Center Observational Study at Dr. Mohammad Hoesin General Hospital, Palembang, Indonesia

Transient Abnormal Myelopoiesis in Down Syndrome Patients

Neonates with Down Syndrome (DS) have a propensity to develop the unique myeloproliferative disorder, Transient Abnormal Myelopoiesis (TAM). Transient abnormal myelopoiesis usually resolves spontaneously in &lt; 3 months, but approximately 10% of patients with TAM die from hepatic or multi-organ failure. After remission, 20% of patients with TAM progress into acute myeloid leukemia associated with down syndrome (ML-DS). The patient was a full-term 2-day-old baby girl with a birth weight of 3300 gr. Physical examination revealed dysmorphic facial features, hypertelorism, macroglossia, and low set ears, which is a characteristic sign of DS face, skin rash, and there was no anus. On examination of peripheral blood smears and bone marrow aspiration, hematological abnormalities, and circulating blast cells were found. Early diagnosis of low-lying anorectal malformation (MAR) without fistula and down syndrome. In treating patients with TAM, it is first necessary to know whether they have trisomy 21 syndrome, then trace the existing hematological disorders to find the GATA 1 genetic mutation. The most crucial hematological problem in patients with DS is leukemia. Mutations in the GATA 1 gene and the presence of DS can result in abnormal proliferation of megakaryocytes and erythroid progenitors in the fetus and hematological abnormalities in TAM. Transient abnormal myelopoiesis can be fatal in up to 10% of patients and resolves spontaneously. Therefore, laboratory examinations are very significant, including blood tests, peripheral blood smears, supporting examinations such as bone marrow aspiration, monitoring of clinical symptoms, and close monitoring of comorbidities. Examination repeat or follow-up bone marrow aspiration is required within six months of patient follow-up to reduce the risk of further complications. In this case, a follow-up examination is highly recommended because if there are no changes, the further examination must be carried out.

Congenital Heart Defects in Patients with Anorectal Malformations: A Retrospective Cohort Study of 281 Patients.

In patients born with anorectal malformations (ARM), additional congenital heart defects (CHD) can occur. We aimed to provide an overview on disease and treatment details of CHD identified in patients born with ARM, from a unique large cohort of a very rare disease. We performed a retrospective single-center cohort study between January 2000 and July 2023. All consecutive patients with ARM were included. Outcomes were the number of patients with CHD, and screening percentage and percentage of patients diagnosed with CHD over 3 time periods (2000-2006, 2007-2014, 2015-2023). We used uni- and multi-variable logistic regression analyses to search for associations between CHD present and baseline characteristics. In total, 281 patients were included. Some 241 (85.8%) underwent echocardiography, of whom 80 (33.2%) had CHD. Screening percentage with echocardiography increased (74.1% vs. 85.7% vs. 95.9%, p < 0.001) and percentage of patients diagnosed with CHD remained similar over time (30.2% vs. 34.5% vs. 34.0%, p = 0.836). Atrial and ventricular septal defects (n = 36, n = 29), and persistent left superior vena cava (n = 17) were most identified. The presence of VACTERL-association or a genetic syndrome was independently associated with the presence of CHD. CHD were present in 33% of patients with ARM that underwent echocardiography. Over time, the number of CHD identified through screening remained similar. Patients with the presence of VACTERL-association or a genetic syndrome had a higher risk of having CHD. Therefore, acknowledging the potential presence of CHD in patients with ARM remains important.

ATRA regulates myoblast differentiation and fusion through the RARα/Pitx2 signaling pathway, causing abnormal development of PFMs in ARM fetal rats.

Anorectal malformation (ARM) is the most common congenital digestive tract anomaly in newborns, and children with ARM often have varying degrees of underdevelopment of the pelvic floor muscles (PFMs). To explore the effects of RARα and Pitx2 on the development of rat PFMs, we constructed a rat ARM animal model using all-trans retinoic acid (ATRA), and verified the expression of RARα and Pitx2 in the PFMs of fetal rats. Additionally, we used rat myoblasts (L6 cells) to investigate the regulatory roles of RARα and Pitx2 in skeletal muscle myoblast differentiation and their interactions. The results indicated a significant decrease in the expression of RARα and Pitx2 in the PFMs of fetal rats with ARM. ATRA can also decrease the expression of RARα and Pitx2 in the L6 cells, while affecting the differentiation and fusion of L6 cells. Knocking down RARα in L6 cells reduced the expression of Pitx2, MYOD1, MYMK, and decreased myogenic activity in L6 cells. When RARα is activated, the decreased expression of Pitx2, MYOD1, and MYMK and myogenic differentiation can be restored to different extents. At the same time, increasing or inhibiting the expression of Pitx2 can counteract the effects of knocking down RARα and activating RARα respectively. These results indicate that Pitx2 may be downstream of the transcription factor RARα, mediating the effects of ATRA on the development of fetal rat PFMs.

Infantile Hemangioma with Minimal or Arrested Growth: Different Clinical Presentations in a Retrospective Case Series

Objectives: Infantile hemangioma with minimal or arrested growth (IHMAG) has been established as a subtype of infantile hemangioma (IH) due to positive glucose transporter-1 staining; however, it is clinically differentiated by a proliferative component of &lt;25% of its total surface area. IHMAG can be misdiagnosed as a capillary malformation, an IH precursor, a noninvoluting congenital hemangioma, or an arteriovenous malformation among others. In this case series, we aim to further illustrate the various clinical characteristics of IHMAG and the features that distinguish this unique entity from the other vascular entities. It is important to recognize the differentiating characteristics to avoid unnecessary evaluation and provide patients with the appropriate management plan. Methods: A retrospective chart review approved by the University of Rochester Medical Center Institutional Review Board was performed from January 2014 to December 2020, with the search terms: “infantile hemangioma with arrested or minimal growth,” “IHMAG” and “abortive hemangioma.” In total, 29 IHMAGs were identified in 27 patients. Charts were reviewed for demographic and clinical characteristics as well as workup, response to treatment, and outcomes. Results: In total, we identified 29 IHMAGs in 27 patients. Female to male ratio was 2:1. Average gestational age was 40 weeks. Lesions were present at birth in 22/27 patients. Out of the 29 IHMAGs, 18 were focal (62%) and 11 were segmental (38%). In most patients, skin examination revealed fine telangiectatic patches with focal areas of bright red papules. Out of 29 IHMAGs, 20 involved the lower body and 18 were focal, whereas 11 were segmental. PHACES syndrome (posterior fossa anomalies, infantile hemangioma, arterial anomalies, cardiac anomalies, eye anomalies, and midline skin defects) was identified in 2 of 2 patients with facial segmental IHMAGs. LUMBAR syndrome (lower body infantile hemangiomas and other skin defects; urogenital anomalies and ulceration; myelopathy; bony deformities; anorectal malformations and arterial anomalies; and rectal anomalies) was ruled out in 2 of 2 patients with extensive IHMAGs involving the sacral area. Semicircular lipoatrophy was seen in 1 patient with segmental circumferential IHMAG of the leg. Ultrasonography was the most used modality. Out of 27 infants, 18 were treated with topical timolol, 4 were treated with oral propranolol, and 2 patients were treated with a combination of both. Conclusion: Trends of the epidemiologic, clinical, and prognostic data of our 27 cases are in concordance with prior reports on IHMAG, further consolidating our understanding of this peculiar entity. IHMAG typically presents as a telangiectatic pink to violaceous patch present at birth in term newborns predominantly involving the lower half of the body. It is important to keep a high index of suspicion for the other vascular anomalies in the differential diagnosis. A segmental IHMAG should prompt providers to screen for associated syndromes such as PHACES and LUMBAR. Additional studies are warranted to better elucidate the pathogenesis of IHMAG and its associated anomalies. Level of evidence: Original report (case series).

Utilization of Indocyanine Green (ICG) Fluorescence in Patients with Pediatric Colorectal Diseases: The Current Applications and Reported Outcomes.

In pediatric colorectal surgery, achieving and visualizing adequate perfusion during complex reconstructive procedures are paramount to ensure postoperative success. However, intraoperative identification of proper perfusion remains a challeng. This review synthesizes findings from the literature spanning from January 2010 to March 2024, sourced from Medline/PubMed, EMBASE, and other databases, to evaluate the role of indocyanine green (ICG) fluorescence imaging in enhancing surgical outcomes. Specifically, it explores the use of ICG in surgeries related to Hirschsprung disease, anorectal malformations, cloacal reconstructions, vaginal agenesis, bladder augmentation, and the construction of antegrade continence channels. Preliminary evidence suggests that ICG fluorescence significantly aids in intraoperative decision-making by improving the visualization of vascular networks and assessing tissue perfusion. Despite the limited number of studies, initial findings indicate that ICG may offer advantages over traditional clinical assessments for intestinal perfusion. Its application has demonstrated a promising safety profile in pediatric patients, underscoring the need for larger, prospective studies to validate these observations, quantify benefits, and further assess its impact on clinical outcomes. The potential of ICG to enhance pediatric colorectal surgery by providing real-time, accurate perfusion data could significantly improve surgical precision and patient recovery.

How to approach cases of anal atresia with rectoscrotal fistula: Low or intermediate?

Anorectal malformation is a congenital condition where the anus, which opens into the rectum, is missing, malformed, or has a blockage that does not allow feces to pass from the body. These malformations often present with an enteroperineal or enterourinary tract fistula in male children. Anorectal atresia with rectoscrotal fistula is rare. Herein, we present the case of a neonate with imperforate anus and a fistula on the scrotal raphe. A fistula in front of the scrotum, described in our case, is very rare and not incorporated in the current classification and treatment algorithms. Scarce reports on misjudgment concerning the position of the blind rectal pouch in similar cases, led us to perform a colostomy instead of a one-stage correction. We believe that in cases with a rare fistula presentation, the position of the rectal pouch is not predictable and the surgeon should proceed with caution.

Adolescent female reproductive system dysplasia: a clinical study of 356 cases

Objective: To explore the age of onset and consultation, the main clinical manifestations, common types of combined malformations, the relationship of endometriosis, surgical prognosis and different types of proportion of adolescent female reproductive system dysplasia. Methods: The medical records of 356 patients (aged 10-19) with female reproductive system dysplasia in Women's Hospital, School of Medicine, Zhejiang University from January 2003 to August 2018 were collected and retrospectively analyzed. Results: (1) Among the 356 adolescent dysplasia patients, uterine dysplasia (23.6%, 84/356), oblique vaginal septum syndrome (OVSS; 22.5%, 80/356) and vaginal dysplasia (21.6%, 77/356) were the most frequent ones, followed by multi-sectional dysplasia (16.0%, 57/356), other types of developmental abnormalities like external genitaliaand urogenital fistula (13.5%, 48/356) and Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome; 2.8%, 10/356). (2) There were significant differences between the median age of onset and the age of consultation of patients with OVSS and other types of abnormalities except hymen atresia (both P<0.05). In contrast, there were no significant differences between the age of onset and the age of consultation of the patients of uterine dysplasia, vaginal dysplasia, hymen atresia, MRKH syndrome and multi-sectional dysplasia (all P>0.05). (3) The clinical manifestations were lack of specificity, and mainly abnormal finding was lower abdominal pain. (4) After admission, the majority of patients underwent comprehensive cardiopulmonary examination (71.3%, 254/356) and urinary system examination (63.5%, 226/356). Only 18.3% (65/356) of patients had completed abdominal organ examination, and 5.9% (21/356) skeletal system examination. About other systemic malformations, urological malformations were the most common (27.5%, 98/356), followed by anorectal malformation (0.6%, 2/356), heart malformations (0.3%, 1/356), and spinal malformations (0.3%, 1/356). 46.4% (84/181) of the surgical patients were diagnosed with combined endometriosis. Patients with obstructive genital tract malformations were more likely to combine with endometriosis than non-obstructive ones [50.3% (74/147) vs 29.4% (10/34); P<0.05]. However, there was no significant difference between the severity of endometriosis of those two kinds (P>0.05). (5) Totally 308 patients were followed up successfully with a median of 25.0 years old, and 20 cases were treated again; 12.0% (37/308) of them were suffering from menstrual disorder and 33.1% (102/308) of them with dysmenorrhea. Totally 130 patients had sexually active reported no sexual problems. Conclusions: Uterine dysplasia, OVSS and vaginal dysplasia are the most common syndromes in adolescent female reproductive system dysplasia along with frequent cases of coexisting urinary malformations and increasing risks of endometriosis. Meanwhile, the lack of specificity of clinical manifestations might delay the timely diagnosis and treatment after the onset of symptoms. Nonetheless, most patients could achieve good surgical outcomes.

Safety assessment of clomiphene: a real-world pharmacovigilance analysis from the Food and Drug Administration adverse event reporting system

ABSTRACT Background Clomiphene is widely used for the treatment of anovulatory infertility, yet there remain many unrecognized adverse events (AEs). The objective of this study is to provide a comprehensive overview of the safety profile of clomiphene. Methods The data were derived from the first quarter of 2004 to the third quarter of 2023 from the Food and Drug Administration Adverse Event Reporting System (FAERS) database. The detection of new AE signals involved the use of four algorithms: reporting odds ratio (ROR), proportional reporting ratio (PRR), Bayesian confidence propagation neural network (BCPNN), and empirical Bayesian geometric mean (EBGM). Results A total of 16,677,289 AE reports were acquired from the FAERS database, and there were 2,620 AEs specifically reported in 720 patients following clomiphene use. The AEs encompassed 102 preferred terms (PTs) across 24 system organ classes (SOCs). Some new AEs were identified, including conjoined twins (0.5%), Potter’s syndrome (0.3%), genitalia external ambiguous (0.3%), esophageal atresia (0.6%), and anal atresia (0.3%). Conclusions Although the majority of AEs aligned with the drug instruction, some new AE signals such as conjoined twins and genitalia external ambiguous were not captured. Well-designed studies are required to demonstrate the safety of clomiphene.

Long-term (> 10years) bowel function of anorectal malformations: a retrospective single-center study.

To describe the long-term bowel function of anorectal malformation (ARM) patients and explore the potential influence factors. ARM patients with follow-up data > 10years were included. Cases of cloaca, Currarino syndrome, and VACTERL syndrome were excluded. Rintala score and PedsQL 4.0 were used to assess bowel function score (BFS) and quality of life (QoL). Based on the results, patients were divided into satisfactory group with BFS ≥ 17 and unsatisfactory group with it < 17. Comparisons between the groups were made. Among the 81 patients were 44 males and 37 females. Follow-up time was 138 (126,151) months. 16 (19.75%) patients had associated anomalies. 23 (28.40%) patients had reoperations, and fistula recurrence was the most common reason. BFS of the patients was 20 (18,20). QoL score was 100 (100,100), which correlated positively with BFS (r = 0.648, P < 0.001). The satisfactory and the unsatisfactory groups had 69 and 12 cases, and their BFS were 20 (20,20) and 11 (8,15) respectively, which had statistical difference (P < 0.001). Total QoL score and psycho-social health score of the unsatisfactory group were lower (P < 0.001). Only reoperations were statistically different between the groups (P < 0.001). Long-term (> 10years) bowel function of ARM patients is good in this study. Defecation problems have negative impacts on QoL and mainly affects their psycho-social health. Primary anorectoplasty is extremely important. Reoperations, which are most commonly seen in recto-urethral fistula recurrence, adversely affect the outcome.

Caudal Regression Syndrome: A Case Report

Caudal regression syndrome is a rare malformation syndrome that involves varying degrees of agenesis of the sacral and coccygeal vertebrae, along with shortening of the lower limbs, and gastrointestinal, genitourinary, and cardiovascular anomalies. Its precise cause remains unknown, although its association with maternal diabetes is well established. We present a rare case of this syndrome in a one-month-old newborn whose mother has known diabetes and who also presents with anorectal malformation syndrome.

Spatial transcriptomics reveals gene interactions and signaling pathway dynamics in rat embryos with anorectal malformation

Anorectal malformation (ARM) is a prevalent early pregnancy digestive tract anomaly. The intricate anatomy of the embryonic cloaca region makes it challenging for traditional high-throughput sequencing methods to capture location-specific information. Spatial transcriptomics was used to sequence libraries of frozen sections from embryonic rats at gestational days (GD) 14 to 16, covering both normal and ARM cases. Bioinformatics analyses and predictions were performed using methods such as WGCNA, GSEA, and PROGENy. Immunofluorescence staining was used to verify gene expression levels. Gene expression data was obtained with anatomical annotations of clusters, focusing on the cloaca region's location-specific traits. WGCNA revealed gene modules linked to normal and ARM cloacal anatomy development, with cooperation between modules on GD14 and GD15. Differential gene expression profiles and functional enrichment were presented. Notably, protein levels of Pcsk9, Hmgb2, and Sod1 were found to be downregulated in the GD15 ARM hindgut. The PROGENy algorithm predicted the activity and interplay of common signaling pathways in embryonic sections, highlighting their synergistic and complementary effects. A competing endogenous RNA (ceRNA) regulatory network was constructed from whole transcriptome data. Spatial transcriptomics provided location-specific cloaca region gene expression. Diverse bioinformatics analyses deepened our understanding of ARM's molecular interactions, guiding future research and providing insights into gene regulation in ARM development.

Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome

To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies. These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists. After two Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems. These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will serve as a starting point for prospective studies to establish formal screening and management guidelines.

Unraveling Patterns of Congenital Structural Malformations in Infants: A Hospital-Based Descriptive Study.

Introduction Congenital malformation studies serve several purposes, including establishing baseline rates, monitoring changes over time, exploring the origins of these defects, and helping in planning health services. Increasing public awareness about pediatric surgical interventions is another goal of these studies. However, the impact of congenital malformations is often underestimated in developing countries due to insufficient healthcare data and diagnostic facilities, particularly in rural areas. Families affected by the birth of a child with congenital malformations face significant stress and hardship. Methods The main aims of this study were to evaluate the clinical pattern of congenital structural malformations in our region (Uttarakhand, India), identify possibly associated factors of congenital malformations, and find out the immediate outcome of congenital malformations in enrolled participants. Results Among a total of 150 cases, 73 (48.7%) cases were inborn, whereas 77 (51.3%) cases were outborn. Investigation of congenital malformation revealed cleft lip or palate in 37 (24.7%) cases, congenital heart disease (CHD) in 33 (22%) cases, meningomyelocele (MMC) in 18 (12.0%) cases, anorectal malformation (ARM) in 11 (7.3%) cases, hypospadias in 10 (6.7%) cases, congenital talipes equinovarus (CTEV) in nine (6.0%) cases, tracheoesophageal fistula (TEF) in nine (6.0%) cases, polydactyly in seven (4.7%) cases, pelviureteric junction obstruction (PUJO) in four (2.7%) cases, duodenal atresia in three (2.0%) cases, midgut volvulus in three (2.0%) cases, umbilical sinus in two (1.3%) cases, sacrococcygeal teratoma (SCT) in one (0.7%) case, phimosis in one (0.7%) case, microtia in one (0.7%) case, and micrognathia in one (0.7%) case. Mortality was observed in 11 (7.3%) cases, whereas 105 (70%) cases were successfully discharged. Among 11 mortality cases, the cause of death was CHD in seven (63.2%) cases, TEF+CHD in two (18.1%) cases, MMC in one (9%) case, and duodenal atresia in one (9%) case. Conclusion Contrary to the common belief that advanced maternal age of greater than 35 years is a major cause, 86.6% of the congenital structural anomalies in our hospital-based study in Uttarakhand occurred in babies of mothers belonging to the age group of 18-30 years. Also, consanguineous marriage was observed in only 3.3% of cases, indicating that it may not be a major contributing factor causing congenital structural malformations in our region.External congenital anomalies are most commonly observed (60.7%), with cleft lip and cleft palate being the most common.The most frequently observed internal congenital anomaly is CHD (22%) followed by gastrointestinal (GI) (18.6%) and urinary anomalies (10.1%).Death and referral are commonly seen in CHD.

Laparoscopic-assisted distal colon excision and proximal colon pull-through anorectoplasty for anorectal malformation.

During the second stage surgery for anorectal malformations (ARM), patients whose distal intestine of the colostomy is particularly short underwent laparoscopic-assisted distal colon excision and proximal colon pull-through anorectoplasty (PCPARP). This study aimed to discuss the outcomes of PCPARP after colostomy in patients with ARM. This is a single-center propensity score-matched (PSM) study which was retrospectively initiated patients with intermediate- or high-type ARM who underwent laparoscopic surgery from June 2007 to December 2018. These patients were divided into PCPARP group and conventional laparoscopic-assisted anorectoplasty (LAARP) group according to specific surgical methods. The general data, surgical data, postoperative complications, and functional results were evaluated. In total, 216 patients were included in this study: 190 (88.0%) undergoing LAARP approach and 26 (12.0%) undergoing PCPARP approach. After PSM, two well-balanced groups of 26 patients were analyzed and showed the postoperative complications (P = 0.126) and bowel function (P = 0.809) were similiar between the two groups. The curative effect of PCPARP after colostomy is similar to that of classic LAARP surgery, which can be used for ARM patients with a very short and abnormal distal intestine of the stoma.

The relationship between the caregiver burden and quality of life in parents of Turkish children with anorectal malformation or Hirschsprung's disease

BackgroundAnorectal malformation (ARM) or Hirschsprung's disease (HD) in children impact on parents' burden of care and quality of life (QoL). The aim of this study was to investigate the relationship between caregiver burden and QoL in parents of children with ARM or HD. Design and methodsThis cross-sectional study was conducted with 51 parents who completed the Zarit Burden Inventory (ZBI) and World Health Organization Quality of Life Scale-Short Form Turkish Version (WHOQOL-BREF-TR). ResultsThe mean (±SD) ZBI score was 33.6 (±12.7), and 47.1% of parents (n = 24) perceived their caregiver burden as mild, 31.4% (n = 16) as moderate, and 3.9% (n = 2) as severe. According to the multivariate linear regression, associated anomalies (β1 = 5.912), family income (β1 = −6.007), stoma care (β1 = 8.287), and diagnosis were identified to be significant determinants of caregiver burden. A negative, moderate, and significant relationship was identified between the ZBI scores and the physical domain (r = −0.417, p < .01), psychological domain (r = −0.421, p < .01), social relations domain (r = −0.398, p < .01), and environmental domain (r = −0.495, p < .01) scores of the WHOQOL-BREF-TR. ConclusionsThe mothers perceived their caregiver burden as mild. However, a significant number of parents suffer from moderate to heavy caregiver burden. An increase in the caregiver burden of parents reduces their quality of life. Practice implicationsHeightened awareness of the potential for caregiver burden and its association with quality of life among parents of children with ARM and HD may contribute to improved.

Major surgical conditions of childhood and their lifelong implications: comprehensive review.

In recent decades, the survival of children with congenital anomalies and paediatric cancer has improved dramatically such that there has been a steady shift towards understanding their lifelong health outcomes. Paediatric surgeons will actively manage such conditions in childhood and adolescence, however, adult surgeons must later care for these 'grown-ups' in adulthood. This article aims to highlight some of those rare disorders encountered by paediatric surgeons requiring long-term follow-up, their management in childhood and their survivorship impact, in order that the adult specialist may be better equipped with skills and knowledge to manage these patients into adulthood. A comprehensive literature review was performed to identify relevant publications. Research studies, review articles and guidelines were sought, focusing on the paediatric management and long-term outcomes of surgical conditions of childhood. The article has been written for adult surgeon readership. This article describes the aforementioned conditions, their management in childhood and their lifelong implications, including: oesophageal atresia, tracheo-oesophageal fistula, malrotation, short bowel syndrome, duodenal atresia, gastroschisis, exomphalos, choledochal malformations, biliary atresia, Hirschsprung disease, anorectal malformations, congenital diaphragmatic hernia, congenital lung lesions and paediatric cancer. The increasing survivorship of children affected by surgical conditions will translate into a growing population of adults with lifelong conditions and specialist healthcare needs. The importance of transition from childhood to adulthood is becoming realized. It is hoped that this timely review will enthuse the readership to offer care for such vulnerable patients, and to collaborate with paediatric surgeons in providing successful and seamless transitional care.

Sirenomelia or mermaid syndrome with a cleft lip in a Tanzanian newborn: a case report

BackgroundSirenomelia or sirenomelia sequence, also known as mermaid syndrome, is a rare congenital anomaly involving the caudal region of the body. The syndrome is characterized by partial or complete fusion of lower extremities, renal agenesis, absent urinary tract, ambiguous external genitalia, imperforate anus, and single umbilical artery. Sirenomelia is often associated with several visceral congenital malformations, rendering it invariably incompatible with extrauterine life.Case presentationWe present the case of 22-year-old Black African woman who delivered a term newborn by caesarean section at a gestation age of 37 weeks due to obstructed labor with fetal distress. The newborn was a fresh stillbirth weighing 2100 g and had fusion of the lower extremities, a single upper limb, ambiguous genitalia, imperforate anus, and a cleft lip. The mother had made only two prenatal visits, at which she was found to be normotensive and normoglycemic. She was not screened for routine fetomaternal infections and missed supplementation for folic acid during the critical first trimester. She did not undergo any obstetric ultrasonography. The parents of the newborn were not close relatives and there was no family history of consanguinity. Further genetic testing was not performed due to lack of laboratory capacity, and post mortem examination was not permitted due to cultural taboo and restrictions relating to handling of deceased newborns.ConclusionSirenomelia is a rare congenital malformation with very poor prognosis. Specific interventions during pre-conception and early prenatal care are critical in the prevention of specific congenital anomalies. Early obstetric ultrasonography is invaluable for diagnosis of sirenomelia as well as counseling for possible termination of pregnancy.

Risk factors for delayed extubation after pediatric perineal anaplasty in patients less than 1 year of age: a retrospective study

BackgroundAnorectal malformation is a common congenital problem occurring in 1 in 5,000 births and has a spectrum of anatomical presentations, requiring individualized surgical treatments for normal growth. Delayed extubation or reintubation may result in a longer intensive care unit (ICU) stay and hospital stay, increased mortality, prolonged duration of mechanical ventilation, increased tracheostomy rate, and higher hospital costs. Extensive studies have focused on the role of risk factors in early extubation during major infant surgery such as Cardiac surgery, neurosurgery, and liver surgery. However, no study has mentioned the influencing factors of delayed extubation in neonates and infants undergoing angioplasty surgery.Materials and MethodsWe performed a retrospective study of neonates and infants who underwent anorectal malformation surgery between June 2018 and June 2022. The principal goal of this study was to observe the incidence of delayed extubation in pediatric anorectal malformation surgery. The secondary goals were to identify the factors associated with delayed extubation in these infants.ResultsWe collected data describing 123 patients who had anorectal malformations from 2019 to 2022. It shows that 74(60.2%) in the normal intubation group and 49(39.8%) in the longer extubation. In the final model, anesthesia methods were independently associated with delayed extubation (P < 0.05).ConclusionWe found that the anesthesia method was independently associated with early extubation in neonates and infants who accepted pediatric anorectal malformation surgery.